ClinVar for Gene (Select 166379) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 805

<< First< Prev

Page of 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3375336	NM_152618.3(BBS12):c.1333T>G (p.Phe445Val)	BBS12 (F445V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3358276	NM_152618.3(BBS12):c.1175C>T (p.Ser392Leu)	BBS12 (S392L)	Single nucleotide variant (missense variant)	BBS12-related disorder	GUncertain significance
Select item 3357784	NM_152618.3(BBS12):c.75A>T (p.Thr25=)	BBS12	Single nucleotide variant (synonymous variant)	BBS12-related disorder	GLikely benign
Select item 3357342	NM_152618.3(BBS12):c.649A>G (p.Lys217Glu)	BBS12 (K217E)	Single nucleotide variant (missense variant)	BBS12-related disorder	GUncertain significance
Select item 3357240	NM_152618.3(BBS12):c.1752A>G (p.Arg584=)	BBS12	Single nucleotide variant (synonymous variant)	BBS12-related disorder	GLikely benign
Select item 3356955	NM_152618.3(BBS12):c.901C>A (p.Gln301Lys)	BBS12 (Q301K)	Single nucleotide variant (missense variant)	BBS12-related disorder	GUncertain significance
Select item 3356642	NM_152618.3(BBS12):c.1491T>A (p.Ile497=)	BBS12	Single nucleotide variant (synonymous variant)	BBS12-related disorder	GLikely benign
Select item 3356141	NM_152618.3(BBS12):c.848T>G (p.Met283Arg)	BBS12 (M283R)	Single nucleotide variant (missense variant)	BBS12-related disorder	GUncertain significance
Select item 3356115	NM_152618.3(BBS12):c.575G>T (p.Arg192Ile)	BBS12 (R192I)	Single nucleotide variant (missense variant)	BBS12-related disorder	GUncertain significance
Select item 3355660	NM_152618.3(BBS12):c.39C>T (p.His13=)	BBS12	Single nucleotide variant (synonymous variant)	BBS12-related disorder	GLikely benign
Select item 3355240	NM_152618.3(BBS12):c.1787A>G (p.Gln596Arg)	BBS12 (Q596R)	Single nucleotide variant (missense variant)	BBS12-related disorder	GUncertain significance
Select item 3355114	NM_152618.3(BBS12):c.1850C>T (p.Thr617Ile)	BBS12 (T617I)	Single nucleotide variant (missense variant)	BBS12-related disorder	GUncertain significance
Select item 3355098	NM_152618.3(BBS12):c.617T>G (p.Val206Gly)	BBS12 (V206G)	Single nucleotide variant (missense variant)	BBS12-related disorder	GUncertain significance
Select item 3354836	NM_152618.3(BBS12):c.1049A>C (p.Gln350Pro)	BBS12 (Q350P)	Single nucleotide variant (missense variant)	BBS12-related disorder	GUncertain significance
Select item 3354144	NM_152618.3(BBS12):c.1018G>A (p.Val340Ile)	BBS12 (V340I)	Single nucleotide variant (missense variant)	BBS12-related disorder	GUncertain significance
Select item 3354137	NM_152618.3(BBS12):c.869T>C (p.Val290Ala)	BBS12 (V290A)	Single nucleotide variant (missense variant)	BBS12-related disorder	GUncertain significance
Select item 3352068	NM_152618.3(BBS12):c.-7A>T	BBS12	Single nucleotide variant (5 prime UTR variant)	BBS12-related disorder	GLikely benign
Select item 3351306	NM_152618.3(BBS12):c.702T>C (p.Ser234=)	BBS12	Single nucleotide variant (synonymous variant)	BBS12-related disorder	GLikely benign
Select item 3351271	NM_152618.3(BBS12):c.1448A>G (p.Asp483Gly)	BBS12 (D483G)	Single nucleotide variant (missense variant)	BBS12-related disorder	GUncertain significance
Select item 3350039	NM_152618.3(BBS12):c.503A>C (p.Asp168Ala)	BBS12 (D168A)	Single nucleotide variant (missense variant)	BBS12-related disorder	GUncertain significance
Select item 3349810	NM_152618.3(BBS12):c.1889G>T (p.Gly630Val)	BBS12 (G630V)	Single nucleotide variant (missense variant)	BBS12-related disorder	GUncertain significance
Select item 3349525	NM_152618.3(BBS12):c.1774G>C (p.Ala592Pro)	BBS12 (A592P)	Single nucleotide variant (missense variant)	BBS12-related disorder	GUncertain significance
Select item 3349250	NM_152618.3(BBS12):c.1779T>A (p.Asn593Lys)	BBS12 (N593K)	Single nucleotide variant (missense variant)	BBS12-related disorder	GUncertain significance
Select item 3348660	NM_152618.3(BBS12):c.1349G>A (p.Gly450Glu)	BBS12 (G450E)	Single nucleotide variant (missense variant)	BBS12-related disorder	GUncertain significance
Select item 3348427	NM_152618.3(BBS12):c.1631T>A (p.Phe544Tyr)	BBS12 (F544Y)	Single nucleotide variant (missense variant)	BBS12-related disorder	GUncertain significance
Select item 3348426	NM_152618.3(BBS12):c.14G>T (p.Cys5Phe)	BBS12 (C5F)	Single nucleotide variant (missense variant)	BBS12-related disorder	GUncertain significance
Select item 3348155	NM_152618.3(BBS12):c.333A>G (p.Ile111Met)	BBS12 (I111M)	Single nucleotide variant (missense variant)	BBS12-related disorder	GUncertain significance
Select item 3347593	NM_152618.3(BBS12):c.1892C>G (p.Ser631Cys)	BBS12 (S631C)	Single nucleotide variant (missense variant)	BBS12-related disorder	GUncertain significance
Select item 3347478	NM_152618.3(BBS12):c.817G>A (p.Val273Ile)	BBS12 (V273I)	Single nucleotide variant (missense variant)	BBS12-related disorder	GUncertain significance
Select item 3346796	NM_152618.3(BBS12):c.1047G>T (p.Leu349Phe)	BBS12 (L349F)	Single nucleotide variant (missense variant)	BBS12-related disorder	GUncertain significance
Select item 3346522	NM_152618.3(BBS12):c.243T>A (p.Tyr81Ter)	BBS12 (Y81*)	Single nucleotide variant (nonsense)	BBS12-related disorder	GPathogenic
Select item 3345541	NM_152618.3(BBS12):c.895G>A (p.Val299Met)	BBS12 (V299M)	Single nucleotide variant (missense variant)	BBS12-related disorder	GUncertain significance
Select item 3345184	NM_152618.3(BBS12):c.656G>T (p.Ser219Ile)	BBS12 (S219I)	Single nucleotide variant (missense variant)	BBS12-related disorder	GUncertain significance
Select item 3345171	NM_152618.3(BBS12):c.1267A>C (p.Ile423Leu)	BBS12 (I423L)	Single nucleotide variant (missense variant)	BBS12-related disorder	GUncertain significance
Select item 3344949	NM_152618.3(BBS12):c.1933A>C (p.Ser645Arg)	BBS12 (S645R)	Single nucleotide variant (missense variant)	BBS12-related disorder	GUncertain significance
Select item 3344692	NM_152618.3(BBS12):c.290G>A (p.Ser97Asn)	BBS12 (S97N)	Single nucleotide variant (missense variant)	BBS12-related disorder	GUncertain significance
Select item 3344641	NM_152618.3(BBS12):c.1565G>A (p.Cys522Tyr)	BBS12 (C522Y)	Single nucleotide variant (missense variant)	BBS12-related disorder	GUncertain significance
Select item 3344508	NM_152618.3(BBS12):c.1432C>G (p.Pro478Ala)	BBS12 (P478A)	Single nucleotide variant (missense variant)	BBS12-related disorder	GUncertain significance
Select item 3344055	NM_152618.3(BBS12):c.1564T>C (p.Cys522Arg)	BBS12 (C522R)	Single nucleotide variant (missense variant)	BBS12-related disorder	GUncertain significance
Select item 3339355	NM_152618.3(BBS12):c.998G>A (p.Gly333Glu)	BBS12 (G333E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260534	NM_152618.3(BBS12):c.2089A>G (p.Thr697Ala)	BBS12 (T697A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3260533	NM_152618.3(BBS12):c.1694G>A (p.Cys565Tyr)	BBS12 (C565Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3246755	NC_000004.11:g.(?_121616266)_(124323706_?)del	AFG2A, ANXA5 +17 more	Deletion	not provided	GUncertain significance
Select item 3246644	NC_000004.11:g.(?_123663048)_(123665180_?)del	BBS12	Deletion	Bardet-Biedl syndrome	GPathogenic
Select item 3242548	NM_152618.3(BBS12):c.1792T>G (p.Tyr598Asp)	BBS12 (Y598D)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 12	GUncertain significance
Select item 3242547	NM_152618.3(BBS12):c.376G>T (p.Glu126Ter)	BBS12 (E126*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 12	GLikely pathogenic
Select item 3240879	NM_152618.3(BBS12):c.1827_1829del (p.Tyr609_Ser610delinsTer)	BBS12	Deletion (nonsense)	Bardet-Biedl syndrome 12	GLikely pathogenic
Select item 3240878	NM_152618.3(BBS12):c.1887_1888del (p.Gly630fs)	BBS12 (G630fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 12	GLikely pathogenic
Select item 3240876	NM_152618.3(BBS12):c.1750del (p.Arg584fs)	BBS12 (R584fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 12	GLikely pathogenic
Select item 3240875	NM_152618.3(BBS12):c.1520del (p.Pro507fs)	BBS12 (P507fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 12	GLikely pathogenic
Select item 3240874	NM_152618.3(BBS12):c.1880_1881del (p.Thr627fs)	BBS12 (T627fs)	Microsatellite (frameshift variant)	Bardet-Biedl syndrome 12	GLikely pathogenic
Select item 3240873	NM_152618.3(BBS12):c.681_684del (p.Arg227fs)	BBS12 (R227fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 12	GLikely pathogenic
Select item 3240872	NM_152618.3(BBS12):c.1042G>T (p.Glu348Ter)	BBS12 (E348*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 12	GLikely pathogenic
Select item 3133160	NM_152618.3(BBS12):c.580C>G (p.Leu194Val)	BBS12 (L194V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3133158	NM_152618.3(BBS12):c.1832C>T (p.Ser611Leu)	BBS12 (S611L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3133157	NM_152618.3(BBS12):c.1831T>C (p.Ser611Pro)	BBS12 (S611P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3133156	NM_152618.3(BBS12):c.1600A>C (p.Lys534Gln)	BBS12 (K534Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3133155	NM_152618.3(BBS12):c.1324A>T (p.Met442Leu)	BBS12 (M442L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3133154	NM_152618.3(BBS12):c.1190C>A (p.Ala397Glu)	BBS12 (A397E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062807	GRCh37/hg19 4q27-28.1(chr4:123302296-124083892)x3	ADAD1, AFG2A +5 more	Copy number gain	not specified	GUncertain significance
Select item 3062804	GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3	FAT1, FAT4 +197 more	Copy number gain	not specified	GPathogenic
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3058503	NM_152618.3(BBS12):c.1455C>A (p.Asn485Lys)	BBS12 (N485K)	Single nucleotide variant (missense variant)	BBS12-related disorder	GUncertain significance
Select item 3053189	NM_152618.3(BBS12):c.1345G>T (p.Ala449Ser)	BBS12 (A449S)	Single nucleotide variant (missense variant)	BBS12-related disorder	GUncertain significance
Select item 3050169	NM_152618.3(BBS12):c.*1T>C	BBS12	Single nucleotide variant (3 prime UTR variant)	BBS12-related disorder	GLikely benign
Select item 3036063	NM_152618.3(BBS12):c.1688A>G (p.His563Arg)	BBS12 (H563R)	Single nucleotide variant (missense variant)	BBS12-related disorder	GUncertain significance
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 3021519	NM_152618.3(BBS12):c.1467A>C (p.Ala489=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 3019196	NM_152618.3(BBS12):c.1756del (p.Thr586fs)	BBS12 (T586fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome	GPathogenic
Select item 3016889	NM_152618.3(BBS12):c.294A>G (p.Ala98=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 3007396	NM_152618.3(BBS12):c.2061C>T (p.Asp687=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2996221	NM_152618.3(BBS12):c.1920_1921del (p.Tyr640_Ser641delinsTer)	BBS12	Microsatellite (nonsense)	Bardet-Biedl syndrome	GPathogenic
Select item 2987217	NM_152618.3(BBS12):c.1140A>C (p.Thr380=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2983207	NM_152618.3(BBS12):c.1407C>T (p.Val469=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2979961	NM_152618.3(BBS12):c.1779T>C (p.Asn593=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2979437	NM_152618.3(BBS12):c.874C>T (p.Leu292=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2960623	NM_152618.3(BBS12):c.1185G>T (p.Leu395=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2958265	NM_152618.3(BBS12):c.1251T>C (p.Asn417=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2954834	NM_152618.3(BBS12):c.351A>G (p.Ser117=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2917060	NM_152618.3(BBS12):c.960A>G (p.Leu320=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2914722	NM_152618.3(BBS12):c.522T>C (p.His174=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2909823	NM_152618.3(BBS12):c.714T>C (p.Asn238=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2905490	NM_152618.3(BBS12):c.201A>T (p.Gly67=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2904224	NM_152618.3(BBS12):c.1563A>G (p.Thr521=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2899879	NM_152618.3(BBS12):c.202C>T (p.Gln68Ter)	BBS12 (Q68*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome	GPathogenic
Select item 2898986	NM_152618.3(BBS12):c.240A>G (p.Thr80=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2890934	NM_152618.3(BBS12):c.1851A>G (p.Thr617=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2888656	NM_152618.3(BBS12):c.1887T>C (p.Ser629=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2885498	NM_152618.3(BBS12):c.1950A>G (p.Ser650=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2880240	NM_152618.3(BBS12):c.1461A>G (p.Arg487=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2876986	NM_152618.3(BBS12):c.516A>G (p.Glu172=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2876059	NM_152618.3(BBS12):c.1527T>C (p.Thr509=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2868611	NM_152618.3(BBS12):c.552G>A (p.Leu184=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2867512	NM_152618.3(BBS12):c.1614A>G (p.Gly538=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2866935	NM_152618.3(BBS12):c.427del (p.Ser143fs)	BBS12 (S143fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome	GPathogenic
Select item 2865689	NM_152618.3(BBS12):c.720A>G (p.Thr240=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2865197	NM_152618.3(BBS12):c.1764T>A (p.Leu588=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2863118	NM_152618.3(BBS12):c.1186_1187del (p.Trp396fs)	BBS12 (W396fs)	Microsatellite (frameshift variant)	Bardet-Biedl syndrome	GPathogenic
Select item 2861657	NM_152618.3(BBS12):c.1626del (p.Glu543fs)	BBS12 (E543fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 12 +1 more	GPathogenic/Likely pathogenic
Select item 2858016	NM_152618.3(BBS12):c.2082T>C (p.His694=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign

<< First< Prev

Page of 9